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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

DHX40  -  DEAH (Asp-Glu-Ala-His) box polypeptide 40

Homo sapiens

Synonyms: ARG147, DDX40, DEAH box protein 40, FLJ22060, PAD, ...
 
 
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High impact information on DHX40

  • In contrast, substitution of an Arg147 to Ala147 at a substrate-binding site, Arg259 to Ala259 and Ser202 to Pro202, in CPE did not affect the level of [125I]N-POMC1-26 binding when compared with-wild type CPE [1].
  • Sequence analyses of exons 4 + 5 revealed two separate single point mutations: a C --> T transition replacing Arg147 by Trp and a T --> G transition converting Tyr171 to a stop codon [2].
  • The results suggested that limited alpha-chymotrypsin digestion of human serum butyrylcholine esterase resulted in the formation of a approximately 20-kDa enzymatically active fragment with Arg147 as its N-terminal residue and which was devoid of galactose [3].
  • We speculate that, like other members of the DExH/D-box superfamily, DDX40 may play roles in pre-mRNA splicing, ribosome biogenesis and other RNA processing functions [4].
 

Analytical, diagnostic and therapeutic context of DHX40

  • Northern blot analysis showed that DDX40 was expressed ubiquitously in the eight tissues examined, implying a general physiological function of the protein [4].

References

  1. Identification of a novel prohormone sorting signal-binding site on carboxypeptidase E, a regulated secretory pathway-sorting receptor. Zhang, C.F., Snell, C.R., Loh, Y.P. Mol. Endocrinol. (1999) [Pubmed]
  2. Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop). Guerin, M., Dachet, C., Goulinet, S., Chevet, D., Dolphin, P.J., Chapman, M.J., Rouis, M. Atherosclerosis (1997) [Pubmed]
  3. Isolation of a galactose-free 20-kDa fragment exhibiting butyrylcholine esterase and aryl acylamidase activity from human serum butyrylcholine esterase by limited alpha-chymotrypsin digestion. Rao, R.V., Balasubramanian, A.S. Eur. J. Biochem. (1989) [Pubmed]
  4. Identification of a novel human DDX40gene, a new member of the DEAH-box protein family. Xu, J., Wu, H., Zhang, C., Cao, Y., Wang, L., Zeng, L., Ye, X., Wu, Q., Dai, J., Xie, Y., Mao, Y. J. Hum. Genet. (2002) [Pubmed]
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